| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.53250744G>T | CA859893 | LRP8 | c.2622C>A (p.Asp874Glu) c.2112C>A (p.Asp704Glu) c.2256C>A (p.Asp752Glu) c.*787C>A (n.*787C>A) c.337C>A c.2157C>A (p.Asp719Glu) c.1520C>A n.2082C>A c.240C>A (p.Asp80Glu) n.2704C>A c.1752C>A (p.Asp584Glu) c.2103C>A (p.Asp701Glu) c.1857C>A (p.Asp619Glu) n.2127C>A c.*2018C>A (n.*2018C>A) c.2235C>A (p.Asp745Glu) c.2106C>A (p.Asp702Glu) c.384C>A c.2206C>A c.2397C>A (p.Asp799Glu) n.2335C>A n.9086C>A c.2010C>A (p.Asp670Glu) c.1281C>A (p.Asp427Glu) c.*1564C>A (n.*1564C>A) c.272C>A c.2007C>A (p.Asp669Glu) c.2661C>A (p.Asp887Glu) c.2274C>A (p.Asp758Glu) c.2436C>A (p.Asp812Glu) c.2535C>A (p.Asp845Glu) c.2145C>A (p.Asp715Glu) c.2748C>A (p.Asp916Glu) c.2496C>A (p.Asp832Glu) c.1404C>A (p.Asp468Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.53250744G>A | CA859891 | LRP8 | c.2622C>T (p.Asp874=) c.2112C>T (p.Asp704=) c.2256C>T (p.Asp752=) c.*787C>T (n.*787C>T) c.337C>T c.2157C>T (p.Asp719=) c.1520C>T n.2082C>T c.240C>T (p.Asp80=) n.2704C>T c.1752C>T (p.Asp584=) c.2103C>T (p.Asp701=) c.1857C>T (p.Asp619=) n.2127C>T c.*2018C>T (n.*2018C>T) c.2235C>T (p.Asp745=) c.2106C>T (p.Asp702=) c.384C>T c.2206C>T c.2397C>T (p.Asp799=) n.2335C>T n.9086C>T c.2010C>T (p.Asp670=) c.1281C>T (p.Asp427=) c.*1564C>T (n.*1564C>T) c.272C>T c.2007C>T (p.Asp669=) c.2661C>T (p.Asp887=) c.2274C>T (p.Asp758=) c.2436C>T (p.Asp812=) c.2535C>T (p.Asp845=) c.2145C>T (p.Asp715=) c.2748C>T (p.Asp916=) c.2496C>T (p.Asp832=) c.1404C>T (p.Asp468=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |